Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.P52del1
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SERPINA1

NM_000295.5:p.P52del1

Associated Papers

Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states.

Joly P et al.

Orphanet Journal of Rare Diseases, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."